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伴有和不伴有α-地中海贫血特征的杂合子HbE患者的HbE水平及红细胞参数

HbE Level and Red Cell Parameters in Heterozygous HbE With and Without α-Thalassemia Trait.

作者信息

Pornprasert Sakorn, Tookjai Monthathip, Punyamung Manoo, Pongpunyayuen Panida

机构信息

1Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, 110 Intawaroros Road, Chiang Mai, 50200 Thailand.

2Associated Medical Sciences Clinical Service Center, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.

出版信息

Indian J Hematol Blood Transfus. 2018 Oct;34(4):662-665. doi: 10.1007/s12288-018-0947-8. Epub 2018 Mar 12.

Abstract

We compared hemoglobin (Hb) E levels and red cell parameters between heterozygous HbE with and without α-thalassemia trait and also determine their appropriated cut-off points for differentiating these two groups. High performance liquid chromatography analysis results and mean levels of red blood cell (RBC) parameters, including RBC count, total Hb, hematocrit, MCV, MCH and MCHC of heterozygous HbE with α-thalassemia trait (n = 183) and without α-thalassemia trait (n = 1437) were reviewed and compared. The α-thalassemia status in these samples was detected by real-time PCR with SYBR Green1 and high resolution melting analysis. Mean levels of HbE, total Hb, MCV, MCH and MCHC of heterozygous HbE with α-thalassemia trait were significantly lower than those of heterozygous HbE without α-thalassemia trait ( < 0.001). In addition, HbE level at a cut-off value of < 24% was superior to MCV (< 80 fL) and MCH (< 27 pg) for differentiating the heterozygous HbE with and without α-thalassemia trait with 100% sensitivity and 87.2% specificity. Despite certain limitations of this study like missing RDW and reticulocyte counts, and not testing for α-thalassemia and Hb Constant Spring, we conclude that the HbE level at a cut-off point of < 24% is a useful marker for initial discrimination between heterozygous HbE with and without α-thalassemia trait.

摘要

我们比较了有和没有α地中海贫血特征的杂合子HbE之间的血红蛋白(Hb)E水平和红细胞参数,并确定了区分这两组的合适切点。回顾并比较了有α地中海贫血特征(n = 183)和无α地中海贫血特征(n = 1437)的杂合子HbE的高效液相色谱分析结果以及红细胞(RBC)参数的平均水平,包括RBC计数、总Hb、血细胞比容、平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)和平均红细胞血红蛋白浓度(MCHC)。通过使用SYBR Green1的实时聚合酶链反应和高分辨率熔解分析检测这些样本中的α地中海贫血状态。有α地中海贫血特征的杂合子HbE的HbE、总Hb、MCV、MCH和MCHC的平均水平显著低于无α地中海贫血特征的杂合子HbE(<0.001)。此外,对于区分有和没有α地中海贫血特征的杂合子HbE,HbE水平在<24%的切点时,其敏感性为100%,特异性为87.2%,优于MCV(<80 fL)和MCH(<27 pg)。尽管本研究存在某些局限性,如缺少红细胞分布宽度(RDW)和网织红细胞计数,且未检测α地中海贫血和血红蛋白恒春突变,但我们得出结论,HbE水平在<24%的切点是区分有和没有α地中海贫血特征的杂合子HbE的有用初始标志物。

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Am Fam Physician. 2010 Nov 1;82(9):1117-22.
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